Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Prenatal Diagnosis

Volumn 33, Issue 13, 2013, Pages 1283-1292

  Brady, P D ^a   Dekoninck, P ^a,b   Fryns, J P ^a   Devriendt, K ^a   Deprest, J A ^a,b   Vermeesch, J R ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR 2; EPHRIN B1; WNT PROTEIN;

ARTICLE; AUTISM; AUTOPSY; BLACKFAN DIAMOND ANEMIA; CARDIOVASCULAR MALFORMATION; CHEMICAL ANALYZER; CHROMOSOME 15Q; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CLINICAL OBSERVATION; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; COPY NUMBER VARIATION; DATA ANALYSIS SOFTWARE; EPITHELIAL MESENCHYMAL TRANSITION; FETAL THERAPY; FETUS; FETUS BLOOD SAMPLING; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KARYOTYPE; KARYOTYPE 46,XX; KARYOTYPE 47,XXX; MAJOR CLINICAL STUDY; MARKER CHROMOSOME; MICROARRAY ANALYSIS; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PATIENT COUNSELING; PHENOTYPE; PREGNANCY; PREGNANT WOMAN; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN INTERACTION; SCHIZOPHRENIA; SIGNAL TRANSDUCTION; SINGLE UMBILICAL ARTERY; X CHROMOSOME;

CHROMOSOME ABERRATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; FETUS; GENE DOSAGE; GENES, DEVELOPMENTAL; GENETIC ASSOCIATION STUDIES; HERNIA, DIAPHRAGMATIC; HUMANS; KARYOTYPING; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX;

EID: 84889652964     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4244     Document Type: Article

References (87)

1. Kotecha S, Barbato A, Bush A, et al. Congenital diaphragmatic hernia. Eur Respir J 2012;39(4):820-29.
2. Skari H, Bjornland K, Haugen G, et al. Congenital diaphragmatic hernia: a meta-analysis of mortality factors. J Pediatr Surg 2000;35(8):1187-97.
3. Clugston RD, Klattig J, Englert C, et al. Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis. Am J Pathol 2006;169(5):1541-9.
4. van Loenhout RB, Tibboel D, Post M, et al. Congenital diaphragmatic hernia: comparison of animal models and relevance to the human situation. Neonatology 2009;96(3):137-49.
5. Brady PD, Srisupundit K, Devriendt K, et al. Recent developments in the genetic factors underlying congenital diaphragmatic hernia. Fetal Diagn Ther 2011;29(1):25-39.
6. Ackerman KG, Herron BJ, Vargas SO, et al. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 2005;1(1):58-65.
7. You LR, Takamoto N, Yu CT, et al. Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. Proc Natl Acad Sci U S A 2005;102(45):16351-6.
8. Jay PY, Bielinska M, Erlich JM, et al. Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 2007;301(2):602-14.
9. Wat MJ, Beck TF, Hernandez-Garcia A, et al. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet 2012;21(18):4115-25.
10. Greer JJ, Cote D, Allan DW, et al. Structure of the primordial diaphragm and defects associated with nitrofen-induced CDH. J Appl Physiol 2000;89(6):2123-9.
11. Babiuk RP, Zhang W, Clugston R, et al. Embryological origins and development of the rat diaphragm. J Comp Neurol 2003;455(4):477-87.
12. Clugston RD, Zhang W, Greer JJ. Early development of the primordial mammalian diaphragm and cellular mechanisms of nitrofen-induced congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol 2010;88(1):15-24.
13. Mayer S, Metzger R, Kluth D. The embryology of the diaphragm. Semin Pediatr Surg 2011;20(3):161-9.
14. Clugston RD, Zhang W, Alvarez S, et al. Understanding abnormal retinoid signaling as a causative mechanism in congenital diaphragmatic hernia. Am J Respir Cell Mol Biol 2010;42(3):276-85.
15. Russell MK, Longoni M, Wells J, et al. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci U S A 2012;109(8):2978-83.
16. Dingemann J, Doi T, Ruttenstock EM, et al. COUP-TFII gene expression is upregulated in embryonic pleuroperitoneal folds in the nitrofen-induced congenital diaphragmatic hernia rat model. Eur J Pediatr Surg 2012;22(1):21-5.
17. Kim PC, Mo R, Hui CC. Murine models of VACTERL syndrome: role of sonic hedgehog signaling pathway. J Pediatr Surg 2001;36(2):381-4.
18. Klaassens M, van Dooren M, Eussen HJ, et al. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 2005;76(5):877-82.
19. Kantarci S, Casavant D, Prada C, et al. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A 2006;140(1):17-23.
20. Shaffer LG, Theisen A, Bejjani BA, et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 2007;9(9):607-16.
21. Klaassens M, Galjaard RJ, Scott DA, et al. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. Am J Med Genet A 2007;143A(18):2204-12.
22. Scott DA, Klaassens M, Holder AM, et al. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 2007;16(4):424-30.
23. Wat MJ, Shchelochkov OA, Holder AM, et al. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A 2009;149A(8):1661-77.
24. Kantarci S, Ackerman KG, Russell MK, et al. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A 2010;152A(10):2493-504.
25. Srisupundit K, Brady PD, Devriendt K, et al. Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenat Diagn 2010;30(12-13):1198-206.
26. Rosenfeld JA, Lacassie Y, El-Khechen D, et al. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. Eur J Med Genet 2011;54(1):42-49.
27. Wat MJ, Veenma D, Hogue J, et al. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet 2011;48(5):299-307.
28. Jani JC, Nicolaides KH, Gratacos E, et al. Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol 2009;34(3):304-10.
29. Deprest J, De Coppi P. Antenatal management of isolated congenital diaphragmatic hernia today and tomorrow: ongoing collaborative research and development. J Pediatr Surg 2012;47(2):282-90.
30. Castiglia L, Fichera M, Romano C, et al. Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results. Am J Hum Genet 2005;77(5):892-94.
31. Slavotinek AM, Moshrefi A, Davis R, et al. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet 2006;14(9):999-1008.
32. Wat MJ, Enciso VB, Wiszniewski W, et al. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia. J Med Genet 2010;47(11):777-81.
33. Itsara A, Cooper GM, Baker C, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009;84(2):148-61.
34. Sahoo T, Theisen A, Rosenfeld JA, et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med 2011;13(10):868-80.
35. Tranchevent LC, Barriot R, Yu S, et al. ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res 2008;36(Web Server issue):W377-W384.
36. Nie D, Xiang Y. Molecular cloning and characterization of a novel human testis-specific gene by use of digital differential display. J Genet 2006;85(1):57-62.
37. Mosca AL, Pinson L, Andrieux J, et al. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses. Prenat Diagn 2011;31(9):912-4.
38. Pober BR. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet 2007;145C(2):158-71.
39. Holder AM, Klaassens M, Tibboel D, et al. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007;80(5):825-45.
40. Huggins GS, Bacani CJ, Boltax J, et al. Friend of GATA 2 physically interacts with chicken ovalbumin upstream promoter-TF2 (COUP-TF2) and COUP-TF3 and represses COUP-TF2-dependent activation of the atrial natriuretic factor promoter. J Biol Chem 2001;276(30):28029-36.
41. Crispino JD, Lodish MB, Thurberg BL, et al. Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. Genes Dev 2001;15(7):839-44.
42. Yu L, Wynn J, Cheung YH, et al. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet 2013;132(3):285-92.
43. Zhou B, Ma Q, Kong SW, et al. Fog2 is critical for cardiac function and maintenance of coronary vasculature in the adult mouse heart. J Clin Invest 2009;119(6):1462-76.
44. Rajagopal SK, Ma Q, Obler D, et al. Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol 2007;43(6):677-85.
45. Wu SP, Cheng CM, Lanz RB, et al. Atrial identity is determined by a COUP-TFII regulatory network. Dev Cell 2013;25(4):417-26.
46. Lin FJ, You LR, Yu CT, et al. Endocardial cushion morphogenesis and coronary vessel development require chicken ovalbumin upstream promoter-transcription factor II. Arterioscler Thromb Vasc Biol 2012;32(11):e135-e146.
47. Pereira FA, Qiu Y, Zhou G, et al. The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. Genes Dev 1999; 13(8):1037-49.
48. Nakamura E, Makita Y, Okamoto T, et al. 5.78Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. Eur J Med Genet 2011;54(3):354-6.
49. Tumer Z, Harboe TL, Blennow E, et al. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet A 2004;130A(4):340-4.
50. Rump P, Dijkhuizen T, Sikkema-Raddatz B, et al. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter). Clin Genet 2008;74(5):455-62.
51. Davidsson J, Collin A, Bjorkhem G, et al. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay. BMC Med Genet 2008;9:2.
52. Poot M, Eleveld MJ, van 't SR, et al. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87Mb deletion of region 15q26.2→qter. Eur J Med Genet 2007;50(6):432-40.
53. Twigg SR, Kan R, Babbs C, et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A 2004;101(23):8652-57.
54. Wieland I, Weidner C, Ciccone R, et al. Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Clin Genet 2007;72(6):506-16.
55. Vasudevan PC, Twigg SR, Mulliken JB, et al. Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Eur J Hum Genet 2006;14(7):884-7.
56. Hogue J, Shankar S, Perry H, et al. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet A 2010;152A(10):2574-77.
57. Petit F, Andrieux J, Holder-Espinasse M, et al. Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia. Eur J Med Genet 2011;54(5):e525-7.
58. Babbs C, Stewart HS, Williams LJ, et al. Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. Hum Mutat 2011;32(8):930-8.
59. Nowaczyk MJ, Ramsay JA, Mohide P, et al. Multiple congenital anomalies in a fetus with 45, X/46, X, r(X)(p11.22q12) mosaicism. Am J Med Genet 1998;77(4):306-9.
60. Doelken SC, Seeger K, Hundsdoerfer P, et al. Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. Am J Med Genet A 2013;161A(1):218-24.
61. Mefford HC, Clauin S, Sharp AJ, et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007;81(5):1057-69.
62. Yu L, Wynn J, Ma L, et al. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet 2012;49(10):650-9.
63. Tseng H. Basonuclin, a zinc finger protein associated with epithelial expansion and proliferation. Front Biosci 1998;3:D985-D988.
64. Boldrup L, Coates PJ, Laurell G, et al. p63 transcriptionally regulates BNC1 a Pol I and Pol II transcription factor that regulates ribosomal biogenesis and epithelial differentiation. Eur J Cancer 2012;48(9):1401-6.
65. Pisani DF, Cabane C, Derijard B et al. The topoisomerase 1-interacting protein BTBD1 is essential for muscle cell differentiation. Cell Death Differ 2004;11(11):1157-65.
66. Pisani DF, Coldefy AS, Elabd C, et al. Involvement of BTBD1 in mesenchymal differentiation. Exp Cell Res 2007; 313(11):2417-26.
67. Rosenfeld JA, Coe BP, Eichler EE, et al. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med 2013;15(6):478-81.
68. Yasuhiko Y, Haraguchi S, Kitajima S, et al. Tbx6-mediated notch signaling controls somite-specific Mesp2 expression. Proc Natl Acad Sci U S A 2006;103(10):3651-6.
69. Yasuhiko Y, Kitajima S, Takahashi Y, et al. Functional importance of evolutionally conserved Tbx6 binding sites in the presomitic mesoderm-specific enhancer of Mesp2. Development 2008;135(21):3511-19.
70. Nowotschin S, Ferrer-Vaquer A, Concepcion D, et al. Interaction of Wnt3a, Msgn1 and Tbx6 in neural versus paraxial mesoderm lineage commitment and paraxial mesoderm differentiation in the mouse embryo. Dev Biol 2012;367(1):1-14.
71. Whittock NV, Sparrow DB, Wouters MA, et al. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 2004;74(6):1249-54.
72. Day R, Fryer A. Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia. Clin Dysmorphol 2003;12(4):277-8.
73. Lam YH, Eik-Nes SH, Tang MH, et al. Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. Ultrasound Obstet Gynecol 1999;13(3):213-5.
74. Rodriguez LM, Garcia-Garcia I, Correa-Rivas MS, et al. Pulmonary hypoplasia in Jarcho-Levin syndrome. P R Health Sci J 2004;23(1):65-7.
75. Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000;24(4):438-41.
76. Sparrow DB, Chapman G, Wouters MA, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 2006;78(1):28-37.
77. Krebs LT, Shutter JR, Tanigaki K, et al. Haploinsufficient lethality and formation of arteriovenous malformations in notch pathway mutants. Genes Dev 2004;18(20):2469-73.
78. Dong Y, Jesse AM, Kohn A, et al. RBPjkappa-dependent notch signaling regulates mesenchymal progenitor cell proliferation and differentiation during skeletal development. Development 2010;137(9):1461-71.
79. Gosemann JH, Doi T, Kutasy B, et al. Alterations of peroxisome proliferator-activated receptor gamma and monocyte chemoattractant protein 1 gene expression in the nitrofen-induced hypoplastic lung. J Pediatr Surg 2012;47(5):847-51.
80. Kang C, Li JL. Role of PGC-1alpha signaling in skeletal muscle health and disease. Ann N Y Acad Sci 2012;1271:110-7.
81. Wang Y, Santos J, Sakurai R, et al. Peroxisome proliferator-activated receptor gamma agonists enhance lung maturation in a neonatal rat model. Pediatr Res 2009;65(2):150-5.
82. Compton LA, Potash DA, Brown CB, et al. Coronary vessel development is dependent on the type III transforming growth factor beta receptor. Circ Res 2007;101(8):784-91.
83. Kirkbride KC, Townsend TA, Bruinsma MW, et al. Bone morphogenetic proteins signal through the transforming growth factor-beta type III receptor. J Biol Chem 2008;283(12):7628-37.
84. Clugston RD, Zhang W, Greer JJ. Gene expression in the developing diaphragm: significance for congenital diaphragmatic hernia. Am J Physiol Lung Cell Mol Physiol 2008;294(4):L665-L675.
85. Jesudason EC. Small lungs and suspect smooth muscle: congenital diaphragmatic hernia and the smooth muscle hypothesis. J Pediatr Surg 2006;41(2):431-5.
86. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367(23):2175-84.
87. Shaffer LG, Dabell MP, Fisher AJ, et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012;32(10):976-85.